Varaico: Literature-Extracted Genetic Variants

RNF20

98 papers

RefSeq Summary

The protein encoded by this gene shares similarity with BRE1 of S. cerevisiae. The protein encoded by this human gene is an E3 ubiquitin ligase that regulates chromosome structure by monoubiquitinatin...

Pfam Domains

CC_Bre1aa 78–265UCSCBre1, coiled-coil containing domain

BRE1Baa 372–522UCSCBRE1B-like domain

zf-C3HC4aa 922–960UCSCZinc finger, C3HC4 type (RING finger)

Gene Aliases

HGNC Name

ring finger protein 20

HGNC Alias Symbols

FLJ20382; FLJ11189; KAIA2779; BRE1A; hBRE1; BRE1

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

2 papers

NM_019592.7

p.C922S

c.2765G>C

Surrounding Variants

2 papers

NM_019592.7

p.C922S

c.2764T>A

1 paper

NM_019592.7

p.C924G

c.2770T>G

1 paper

NM_019592.7

p.C924F

c.2771G>T

1 paper

NM_019592.7

p.A918E

c.2753C>A

1 paper

NM_019592.7

p.M927R

c.2780T>G

1 paper

NM_019592.7

p.R949C

c.2845C>T

1 paper

NM_019592.7

p.R949H

c.2846G>A

1 paper

NM_019592.7

p.R949L

c.2846G>T

1 paper

NM_019592.7

p.R955H

c.2864G>A

1 paper

NM_019592.7

p.K959E

c.2875A>G

1 paper

NM_019592.7

p.R971C

c.2911C>T

1 paper

NM_019592.7

p.P903P

c.2709C>T